Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1027263198
rs1027263198
1 1.000 0.040 3 46898787 missense variant G/A snv 8.7E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs121434601
rs121434601
3 0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03 0.010 1.000 1 2008 2008
dbSNP: rs200197785
rs200197785
1 1.000 0.040 3 46897905 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008